Hereditary sensory and autonomic neuropathy (HSAN): classification
Evidence-based neurology checklist on hereditary sensory and autonomic neuropathy (hsan): classification: Genetic classification HSAN I HSAN II HSAN III: familial dysautonomia (Riley Day syndrome) HSAN IV: congenital insensitivity to pain with anhidrosis (CIPA) HSAN V: congenital insensitivity to…
Genetic classification
- HSAN I
- HSAN II
- HSAN III: familial dysautonomia (Riley Day syndrome)
- HSAN IV: congenital insensitivity to pain with anhidrosis (CIPA)
- HSAN V: congenital insensitivity to pain with partial anhidrosis
- HSAN VI
- HSAN VII
- HSAN VIII
- Other genes
Synonyms
References
- Schwartzlow C, Kazamel M. Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep 2019; 19:52.
- Rotthier A, Baets J, De Vriendt E, et al. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain 2009; 132:2699-2711.
- Auer-Grumbach M. Hereditary sensory neuropathy type I. Orphanet J Rare Dis 2008; 3:7.
- Romagnuolo M, Moltrasio C, Cavalli R, Brena M, Tadini G. A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment. Pediatr Dermatol 2023 (Online ahead of print).
- Zhang S, Malik Sharif S, Chen YC, et al. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. J Med Genet 2016; 53:533-535.
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Related checklists
- Hereditary sensory and autonomic neuropathy (HSAN): type I
- Hereditary sensory and autonomic neuropathy (HSAN): type II
- Hereditary sensory and autonomic neuropathy (HSAN): type III
- Hereditary sensory and autonomic neuropathy (HSAN): type IV
- Hereditary sensory and autonomic neuropathy (HSAN): type V
- Hereditary sensory and autonomic neuropathy (HSAN): type VI
- Hereditary sensory and autonomic neuropathy (HSAN): type VII
- Hereditary sensory and autonomic neuropathy (HSAN): type VIII
